Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

doi:10.1002/ajmg.a.31322

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

American journal of medical genetics. Part A - 15 Aug 2006

Robertson Stephen P, Jenkins Zandra A, Morgan Timothy, Adès Lesley, Aftimos Salim, Boute Odile, Fiskerstrand Torunn, Garcia-Miñaur Sixto, Grix Arthur, Green Andrew, Der Kaloustian Vazken, Lewkonia Ray, McInnes Brenda, van Haelst Mieke M, Mancini Grazia, Macini Grazia, Illés Tamás, Mortier Geert, Newbury-Ecob Ruth, Nicholson Linda, Scott Charles I, Ochman Karolina, Brozek Izabela, Shears Deborah J, Superti-Furga Andrea, Suri Mohnish, Whiteford Margo, Wilkie Andrew O M, Krakow Deborah

Abstract excerpt

Frontometaphyseal dysplasia is an X-linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones. Extraskeletal features include tracheobronchial, cardiac, and urological malformations. A proportion of individuals have missense mutations or small deletions in the X-linked gene, FLNA. We report here our experience with comprehensive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Contractile Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Filamins

Share to Genes, X-Linked

Share to Magnetic Resonance Imaging

Share to Microfilament Proteins

Share to Osteochondrodysplasias

Share to Radiography

Share to X Chromosome Inactivation

Source

Open in PubMed

Identifiers

PMID: 16835913
DOI: 10.1002/ajmg.a.31322

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.PMID 16835913Read ↗

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.Semantic proximity Read ↗

Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.Semantic proximity Read ↗

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.Semantic proximity Read ↗

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.Semantic proximity Read ↗

Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1.Semantic proximity Read ↗

Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.Semantic proximity Read ↗

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.Semantic proximity Read ↗

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.Semantic proximity Read ↗

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.Semantic proximity Read ↗

Molecular pathology of filamin A: diverse phenotypes, many functions.Semantic proximity Read ↗

Association of mutations in FLNA with craniosynostosis.Semantic proximity Read ↗

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.